Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00338:Slc22a26'

3260

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc22a26

Ensembl Gene

ENSMUSG00000053303

Gene Name

solute carrier family 22 (organic cation transporter), member 26

Synonyms

BC014805

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL00338

Quality Score

Status

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7782975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 468 (L468I)

Ref Sequence

ENSEMBL: ENSMUSP00000113607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065634] [ENSMUST00000120522]

AlphaFold

Q91WJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000065634
AA Change: L469I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: L469I

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
Pfam:Sugar_tr	96	528	1.1e-23	PFAM
Pfam:MFS_1	124	370	7.8e-17	PFAM
Pfam:MFS_1	350	547	2.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120522
AA Change: L468I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: L468I

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
Pfam:Sugar_tr	94	527	4.9e-23	PFAM
Pfam:MFS_1	124	358	1.2e-15	PFAM
Pfam:MFS_1	349	547	2.4e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	A	G	5: 135,011,985	D217G	probably benign	Het
Ankar	T	A	1: 72,690,131	Y285F	probably damaging	Het
Ano8	C	A	8: 71,484,258		probably benign	Het
Bche	A	G	3: 73,701,307	V262A	probably benign	Het
Car13	T	C	3: 14,656,904		probably benign	Het
Cd244	T	A	1: 171,574,370		probably null	Het
Cfap157	T	C	2: 32,781,383	D137G	probably damaging	Het
Cobl	T	C	11: 12,375,813	R119G	possibly damaging	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gp2	A	G	7: 119,454,390	M116T	probably damaging	Het
Gp5	C	A	16: 30,308,822	A345S	probably benign	Het
Gphn	A	T	12: 78,504,632	I285F	probably damaging	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Hecw2	T	C	1: 53,827,881		probably benign	Het
Hydin	C	A	8: 110,569,802	N3654K	possibly damaging	Het
Inpp5b	A	G	4: 124,784,375	Y440C	possibly damaging	Het
Olfr1256	A	T	2: 89,835,458	Y162*	probably null	Het
Pphln1	A	G	15: 93,465,210	K306E	probably damaging	Het
Rnf26	A	C	9: 44,112,859	S31A	probably benign	Het
Ros1	A	T	10: 52,125,811	S1072T	probably benign	Het
Skiv2l	A	G	17: 34,846,667	W304R	probably damaging	Het
Slc22a14	A	G	9: 119,178,513	F277L	possibly damaging	Het
Tchh	C	T	3: 93,447,644	L1464F	unknown	Het
Tmem260	C	T	14: 48,477,636	T249M	probably damaging	Het
Ttn	A	G	2: 76,974,065	S288P	probably damaging	Het
Usp17lc	A	G	7: 103,418,941	H481R	possibly damaging	Het
Vps50	C	T	6: 3,602,670	T929M	probably benign	Het
Zdhhc8	A	G	16: 18,225,196	L380P	possibly damaging	Het

Other mutations in Slc22a26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Slc22a26	APN	19	7782836	missense	probably damaging	0.99
IGL00736:Slc22a26	APN	19	7790162	missense	possibly damaging	0.50
IGL01085:Slc22a26	APN	19	7790099	missense	probably benign	0.02
IGL01581:Slc22a26	APN	19	7802184	missense	probably benign	0.15
IGL02502:Slc22a26	APN	19	7790760	critical splice donor site	probably null
IGL02658:Slc22a26	APN	19	7788248	missense	probably benign	0.25
IGL02936:Slc22a26	APN	19	7791105	missense	probably damaging	0.99
IGL03162:Slc22a26	APN	19	7802101	missense	probably benign	0.00
R0034:Slc22a26	UTSW	19	7802253	missense	probably benign	0.03
R0633:Slc22a26	UTSW	19	7788210	critical splice donor site	probably null
R0676:Slc22a26	UTSW	19	7796144	splice site	probably benign
R2156:Slc22a26	UTSW	19	7802115	missense	probably damaging	1.00
R4043:Slc22a26	UTSW	19	7788329	critical splice acceptor site	probably null
R4781:Slc22a26	UTSW	19	7790135	missense	probably benign	0.34
R4896:Slc22a26	UTSW	19	7791054	missense	probably benign	0.14
R4999:Slc22a26	UTSW	19	7802181	missense	probably damaging	1.00
R5125:Slc22a26	UTSW	19	7790175	missense	possibly damaging	0.62
R5178:Slc22a26	UTSW	19	7790175	missense	possibly damaging	0.62
R6161:Slc22a26	UTSW	19	7786447	missense	possibly damaging	0.50
R6494:Slc22a26	UTSW	19	7802286	missense	probably damaging	1.00
R6512:Slc22a26	UTSW	19	7802500	start gained	probably benign
R6724:Slc22a26	UTSW	19	7802361	missense	probably benign	0.14
R7323:Slc22a26	UTSW	19	7790894	missense	probably damaging	0.97
R7375:Slc22a26	UTSW	19	7783144	splice site	probably null
R7558:Slc22a26	UTSW	19	7785286	missense	possibly damaging	0.94
R7634:Slc22a26	UTSW	19	7802587	splice site	probably null
R8772:Slc22a26	UTSW	19	7790112	missense	probably benign	0.27
R8905:Slc22a26	UTSW	19	7782966	missense	probably damaging	0.97
R8937:Slc22a26	UTSW	19	7791025	splice site	probably benign
R9059:Slc22a26	UTSW	19	7785194	missense	probably benign	0.01
R9659:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02
R9788:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02

Posted On

2012-04-20